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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Parfitt DA, Lane A, Ramsden CM, Carr AF, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME. Parfitt DA, et al. Among authors: moore at. Cell Stem Cell. 2016 Jun 2;18(6):769-781. doi: 10.1016/j.stem.2016.03.021. Epub 2016 Apr 14. Cell Stem Cell. 2016. PMID: 27151457 Free PMC article.
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: moore at. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. Coccia M, et al. Among authors: moore at. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4. Hum Mol Genet. 2009. PMID: 19414485 Free PMC article.
Focus on molecules: centrosomal protein 290 (CEP290).
Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. Moradi P, et al. Among authors: moore at. Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. Epub 2010 May 20. Exp Eye Res. 2011. PMID: 20493186 No abstract available.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: moore at. Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579627 Free PMC article.
499 results